# cytochrome-c oxidase deficiency disease

> Human disease

**Wikidata**: [Q18556069](https://www.wikidata.org/wiki/Q18556069)  
**Source**: https://4ort.xyz/entity/cytochrome-c-oxidase-deficiency-disease


## References

1. Monarch Disease Ontology release 2018-06-29
2. Disease Ontology
3. UniProt
4. A mutation in the FAM36A gene, the human ortholog of COX20, impairs cytochrome c oxidase assembly and is associated with ataxia and muscle hypotonia.
5. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000198804/Orphanet_254905)
6. A founder mutation in PET100 causes isolated complex IV deficiency in Lebanese individuals with Leigh syndrome
7. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000229833/MONDO_0009068)
8. Mutations in APOPT1, encoding a mitochondrial protein, cause cavitating leukoencephalopathy with cytochrome c oxidase deficiency
9. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000148290/MONDO_0009068)
10. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000148290/Orphanet_254905)
11. [Identifiers.org](http://www.ebi.ac.uk/miriam/main/collections/MIR:00000233)